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Science 329 (5987): 40-41

Copyright © 2010 by the American Association for the Advancement of Science

Evolution

Genes for High Altitudes

Jay F. Storz

During the past 100,000 to 200,000 years, anatomically modern humans successfully colonized a diverse range of environments across the planet. Some of the most extreme of these environments are found on the high-altitude plateaus of Central Asia and the Andes. The Tibetan Plateau appears to have been inhabited for ~25,000 years, and permanent settlements have been established at elevations of 3500 to 4500 m (1, 2). Residents of these lofty altitudes descend from a long line of highland ancestors who lived long enough to reproduce in spite of the physiological challenges associated with chronic oxygen deprivation. Thus, studies of indigenous high-altitude residents provide the opportunity to identify genes that may have played a role in hypoxia adaptation. On pages 72 and 75 of this issue, Simonson et al. (3) and Yi et al. (4), respectively, combine genomic and candidate-gene analyses to identify the genetic basis of high-altitude adaptation in Tibetans. Together with another recent analysis (5), the studies reveal that genes in the hypoxia-inducible factor (HIF) oxygen signaling pathway have been subject to strong and recent positive selection in Tibetan highlanders.

School of Biological Sciences, University of Nebraska, Lincoln, NE 68588, USA.

E-mail: jstorz2{at}unl.edu

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